Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Autor: Ali M, Buentello-Volante B, McKibbin M, Ja, Rocha-Medina, Narcis Fernandez-Fuentes, Koga-Nakamura W, Ashiq A, Khan K, Ap, Booth, Williams G, Raashid Y, Jafri H, Rice A, Cf, Inglehearn, Jc, Zenteno

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09f93413e9e03c8606a613584f3ef9d4
http://www.scopus.com/inward/record.url?eid=2-s2.0-77955643791&partnerID=MN8TOARS

Manifestation of papilloedema secondary to intracranial hypertension following trabeculectomy in juvenile open angle glaucoma.

Autor: Swampillai AJ; Royal Eye Infirmary, Plymouth Hospitals NHS Trust, Plymouth, U.K.. Electronic address: andrew.swampillai@nhs.net., Booth AP; Royal Eye Infirmary, Plymouth Hospitals NHS Trust, Plymouth, U.K.

Publikováno v: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie [Can J Ophthalmol] 2019 Aug; Vol. 54 (4), pp. e186-e188. Date of Electronic Publication: 2019 Jan 15.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Autor: Bedoni N; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Haer-Wigman L; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Vaclavik V; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Fertas Andrology Laboratory, Lausanne, Switzerland., Tran VH; Jules Gonin Eye Hospital, Lausanne, Switzerland., Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Balzano S; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Royer-Bertrand B; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland., El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Bonny O; Service of Nephrology, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Ikonomidis C; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Litzistorf Y; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Nikopoulos K; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Yioti GG; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece., Stefaniotou MI; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece., McKibbin M; The Eye Department, St. James's University Hospital, Leeds, UK., Booth AP; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK., Ellingford JM; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Black GC; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Toomes C; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Bax N; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Klaver CC; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Thiadens AA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Murisier F; Fertas Andrology Laboratory, Lausanne, Switzerland., Schorderet DF; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland., Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Cremers FP; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Andréasson S; Department of Ophthalmology, Lund University, Lund, Sweden., Munier FL; Jules Gonin Eye Hospital, Lausanne, Switzerland., Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2016 Oct 15; Vol. 25 (20), pp. 4546-4555.

Glaucoma surgery.

Autor: Modi N; Royal Eye Infirmary, Plymouth PL4 6PL. ncmodi@gmail.com, Vahdani K, Booth AP

Publikováno v: Journal of perioperative practice [J Perioper Pract] 2011 Jan; Vol. 21 (1), pp. 33-7.

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

Autor: McKibbin M; Department of Ophthalmology, St. James's University Hospital, Beckett Street, Leeds LS9 7TF, England. martin.mckibbin@leedsth.nhs.uk, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF

Publikováno v: Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 2010 Jan; Vol. 128 (1), pp. 107-13.